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Cis-elements specific to disease chromosome backgrounds "drive" the disease-causing repeat instability. Such elements are also likely to determine the timing and tissue selectivity of mutations. The exact nature of these cis-elements, which may vary between disease loci, is unknown. Candidate cis-elements include replication origins, chromatin packaging, CpG methylation, and other epigenetic marks. We are using patient cells, transgenic mouse models and episomal (SV40) primate models to identify and characterize cis-elements that can modulate the instability of repeats at the myotonic dystrophy, fragile X, spinocerebellar ataxia 7, and Huntington's disease loci.
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